Sengers syndrome
Findings
No curated finding names Sengers syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.
Definition from the Mondo Disease Ontology (MONDO:0008922), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CataractHPOHP:0000518
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 2 of 2 reported patients
- Depletion of mitochondrial DNA in muscle tissueHPOHP:0009141
- 2 of 2 reported patients
- Lactic acidosisHPOHP:0003128
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 12
- Generalized muscle weaknessHPOHP:0003324
- 1 of 2 reported patients
- GlaucomaHPOHP:0000501
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
- Mental deteriorationHPOHP:0001268
- 1 of 2 reported patients
- Motor delayHPOHP:0001270
- 1 of 2 reported patients
- OsteopeniaHPOHP:0000938
- 1 of 2 reported patients
- Premature ovarian insufficiencyHPOHP:0008209
- 1 of 2 reported patients
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AGKHGNC:21869
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- SLC25A4HGNC:10990
- Supportive · Orphanet · Autosomal recessive · 2021
- TKFCHGNC:24552
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Sengers syndrome
- Also called
- mitochondrial DNA depletion syndrome 10